Dicarboxylic aminoaciduria(DCBXA)

MedGen UID:: 387782
•Concept ID:: C1857253
•: Disease or Syndrome

Synonyms:	DCBXA; Dicarboxylicaminoaciduria; Glutamate-aspartate transport defect
SNOMED CT:	Dicarboxylic aminoaciduria syndrome (716747007); Glutamate aspartate transport defect (716747007)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC1A1 (9p24.2)

Monarch Initiative:	MONDO:0009110
OMIM®:	222730
Orphanet:	ORPHA2195

Definition

Dicarboxylic aminoaciduria (DCBXA) is characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. Patients may have impaired intellectual development (summary by Bailey et al., 2011). [from OMIM]

Clinical features

From HPO

Aminoaciduria

MedGen UID:: 116067
•Concept ID:: C0238621
•: Disease or Syndrome

An increased concentration of an amino acid in the urine.

See: Feature record | Search on this feature

Nephrolithiasis

MedGen UID:: 98227
•Concept ID:: C0392525
•: Disease or Syndrome

The presence of calculi (stones) in the kidneys.

See: Feature record | Search on this feature

Aspartic aciduria

MedGen UID:: 1702829
•Concept ID:: C5139320
•: Disease or Syndrome

A increased concentration of aspartic acid in the urine.

See: Feature record | Search on this feature

Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

Fasting hypoglycemia